RT Journal Article
T1 Clinical heterogeneity of pulmonary arterial hypertension associated with variants in TBX4
A1 Hernández González, Ignacio
A1 Tenorio, Jair
A1 Palomino Doza, Julián
A1 Martínez Meñaca, Amaya
A1 Morales Ruiz, Rafael
A1 Lago Docampo, Mauro
A1 Valverde Gómez, María
A1 Gómez Román, Javier
A1 Enguita Valls, Ana Belén
A1 Pérez Olivares, Carmen
A1 Valverde Pérez, Diana
A1 Gil Carbonell, Joan
A1 Garrido-Lestache Rodríguez-Monte, Elvira
A1 del Cerro, María Jesús
A1 Lapunzina, Pablo
A1 Escribano Subias, Pilar
K1 3205.08 Enfermedades Pulmonares
K1 2409 Genética
K1 3207.04 Patología Cardiovascular
AB BackgroundThe knowledge of hereditary predisposition has changed our understanding of Pulmonary Arterial Hypertension. Genetic testing has been widely extended and the application of Pulmonary Arterial Hypertension specific gene panels has allowed its inclusion in the diagnostic workup and increase the diagnostic ratio compared to the traditional sequencing techniques. This is particularly important in the differential diagnosis between Pulmonary Arterial Hypertension and Pulmonary Venoocclusive Disease.MethodsSince November 2011, genetic testing is offered to all patients with idiopathic, hereditable and associated forms of Pulmonary Arterial Hypertension or Pulmonary Venoocclusive Disease included in the Spanish Registry of Pulmonary Arterial Hypertension. Herein, we present the clinical phenotype and prognosis of all Pulmonary Arterial Hypertension patients with disease-associated variants in TBX4.ResultsOut of 579 adults and 45 children, we found in eight patients from seven families, disease-causing associated variants in TBX4. All adult patients had a moderate-severe reduction in diffusion capacity. However, we observed a wide spectrum of clinical presentations, including Pulmonary Venoocclusive Disease suspicion, interstitial lung disease, pulmonary vascular abnormalities and congenital heart disease.ConclusionsGenetic testing is now essential for a correct diagnosis work-up in Pulmonary Arterial Hypertension. TBX4-associated Pulmonary Arterial Hypertension has marked clinical heterogeneity. In this regard, a genetic study is extremely useful to obtain an accurate diagnosis and provide appropriate management
PB PLoS ONE
SN 19326203
YR 2020
FD 2020-04-29
LK http://hdl.handle.net/11093/3040
UL http://hdl.handle.net/11093/3040
LA eng
NO PLoS ONE, 15(4): e0232216 (2020)
NO Instituto de Salud Carlos III | Ref. PI 18/01233
DS Investigo
RD 10-dic-2023